Hypochondroplasia kid: March 2010

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

Wednesday, March 24, 2010

lopsided

Well, we drove down to Lafayette, L.A. for a new endocrinologist doctor visit. The new doctor was nice and very thorough. She was very amused by his leg length and how the rolls and creases didn't match on either side. We measured the legs and one was 1/2 inch different than the other leg. Well that might explain why he falls all the time. He is top heavy and now we know he is lopsided also. The doctor we met Monday is going to help us continue the growth hormone fight going on with the insurance company and monitor his progress/ non progress. We did some blood work to see if the hormone is causing any damage also, we'll find out the results of it later. Over all the visit was good, but exhausting. We go back in August. Everything has been pretty easy as far as this whole scenario goes.